Gene

nkx2.5

ID
ZDB-GENE-980526-321
Name
NK2 homeobox 5
Symbol
nkx2.5 Nomenclature History
Previous Names
  • nk2.5
  • nkx2-5
  • sb:eu581
  • tinman homeobox homolog
  • zgc:111912
Type
protein_coding_gene
Location
Chr: 14 Mapping Details/Browsers
Description
Predicted to have DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in several processes, including circulatory system development; embryonic viscerocranium morphogenesis; and regulation of cardiac chamber formation. Predicted to localize to nucleus. Is expressed in several structures, including cardiovascular system; digestive system; margin; mesoderm; and pharyngeal arch. Human ortholog(s) of this gene implicated in aortic valve disease 2; atrioventricular block; congenital heart disease (multiple); and congenital nongoitrous hypothyroidism 5. Orthologous to human NKX2-5 (NK2 homeobox 5).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
221 figures from 158 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
33 figures from 11 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With nkx2.5 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
atrial heart septal defect 7 Alliance Atrial septal defect 7, with or without AV conduction defects 108900
congenital nongoitrous hypothyroidism 5 Alliance Hypothyroidism, congenital nongoitrous, 5 225250
double outlet right ventricle Alliance Conotruncal heart malformations, variable 217095
hypoplastic left heart syndrome Alliance Hypoplastic left heart syndrome 2 614435
tetralogy of Fallot Alliance Tetralogy of Fallot 187500
ventricular septal defect Alliance Ventricular septal defect 3 614432
Associated With nkx2.5 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR017970 Homeobox, conserved site
Domain IPR001356 Homeobox domain
Domain IPR020479 Homeobox domain, metazoa
Family IPR033629 Homeobox protein NKX-2.5
Homologous_superfamily IPR009057 Homeobox-like domain superfamily
Domain Details Per Protein
Protein Length Homeobox, conserved site Homeobox domain Homeobox domain, metazoa Homeobox-like domain superfamily Homeobox protein NKX-2.5
UniProtKB:Q98872 314
UniProtKB:O13160 314
UniProtKB:Q567L4 312
UniProtKB:F1RCL3 314
UniProtKB:A0A2R8RJR5 314
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab2-nkx2.5 polyclonal IgG Rabbit
  • IHC
Thermo Fisher Scientific (Lab Vision)
2
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations